Marion Strullu, Elie Cousin, Sandrine de Montgolfier, Laurene Fenwarth, Nathalie Gachard, Isabelle Arnoux, Nicolas Duployez, Sandrine Girard, Audrey Guilmatre, Marina Lafage, Marie Loosveld, Arnaud Petit, Laurence Perrin, Yoan Vial, Paul Saultier
The spectrum of childhood leukemia predisposition syndromes has grown significantly over last decades. These predisposition syndromes mainly involve CEBPA, ETV6, GATA2, IKZF1, PAX5, RUNX1, SAMD9/SAMD9L, TP53, RAS-MAPK pathway, DNA mismatch repair system genes, genes associated with Fanconi anemia, and trisomy 21. The clinico-biological features leading to the suspicion of a leukemia predisposition are highly heterogeneous and require varied exploration strategies. The study of the initial characteristics of childhood leukemias includes high-throughput sequencing techniques, which have increased the frequency of situations where a leukemia predisposing syndrome is suspected...
January 23, 2024: Bulletin du Cancer